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Causes of ARVD/C
What Are the Causes?
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is caused by abnormalities of structures that connect heart muscle cells together. These structures are known as desmosomes.
As the disease progresses, the heart muscle especially on the right of the heart becomes replaced by fatty tissue. This is known as “dysplasia”, which can cause dangerous heart rhythms, and leads in some cases to heart muscle weakness (“cardiomyopathy”). It is a genetic disease that runs in families. The gene mutation causing the condition can be identified about half the time.
Arrhythmogenic right ventricular dysplasia (ARVD) or cardiomyopathy (ARVC) is caused by several genetic defects, affecting desmosomes, which are proteins on the surface of heart muscle cells that link those cells together. These genetic defects lead to abnormalities in the lower heart chambers, the ventricles. What is normally muscle is replaced over time by scar tissue, known as “fibrofatty” replacement.
Most often, the right ventricle is affected, but the left ventricle can be affected as well, particularly in more advanced disease. As a result, electrical activity in the ventricles can become unstable, leading to reentrant ventricular tachycardia (VT). Particularly in advanced disease, the pumping function of the right and/or left ventricles can weaken as a result of the scarring.